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GTD Indications Diagnosis Carrier / Cascade Testing Prenatal GTD Samples Accepted Blood DNA Cultured Cells Buccal Swab Saliva GTD Test Methodology Sequencing GTD Methodology Notes Targeted Variant: N314D (Duarte variant), Q188R (classic galactosemia) Generic Test name (cms title) Galactosemia GTD Test type Targeted Variant GTD Location London Health Sciences Centre GTD Gene/Platform/Region List GALT (N314D, Q188R) GTD Category Metabolic GTD Disease/Condition Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)